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Table 2 Guidelines for periodical examination

From: Familial paragangliomas

Which disease gene carrier has to be investigated periodically and when?
   • Carriers of a hereditary mutation of the PGL1 or PGL2 gene only if they have inherited the disease gene from their father (the paternal PGL disease gene) (thus in SDHD and PGL-2)
   • all carriers of a PGL 3 or PGL 4 disease gene, irrespective of the gender of the genetically affected parent
Preferably, DNA analysis should be performed at an age between 5 and 10 years. This is the age at which periodical screening should have been started.
How frequently does periodical examination have to be performed?
In cases where tumours grow slowly and there are no symptoms or signs of expression of the disease, every three years:
   • 24-hour urine on metabolites of noradrenaline and adrenaline
   • ultrasound of the neck
   • duplex examination of blood vessels in the neck
   • MRI from the age of 10 onwards
If there are symptoms or signs of expression of the disease:
Consider surgical removal and in any case every year:
   • 24-hour urine on metabolites of noradrenaline and adrenaline
   • ultrasound of the neck
   • duplex examination of blood vessels in the neck
   • MRI from the age of 10 onwards